A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family-Reference-Cited by-同舟云学术

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A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family

Published:2009-05-22 Issue:7 Volume:54 Page:422-425
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Lv Dan,Luo Yang,Yang Wei,Cao Lihua,Wen Yaran,Zhao Xiuli,Sun Miao,Lo Wilson H-Y,Zhang Xue

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg200948.pdf

Reference13 articles.

1. Afzal, A. R. & Jeffery, S. One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. Hum. Mutat. 22, 1–11 (2003).

2. Oldridge, M., Fortuna, A. M., Maringa, M., Propping, P., Mansour, S., Pollitt, C. et al. Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. Nat. Genet. 24, 275–278 (2000).

3. Schwabe, G. C., Tinschert, S., Buschow, C., Meinecke, P., Wolff, G., Gillessen-Kaesbach, G. et al. Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. Am. J. Hum. Genet. 67, 822–831 (2000).

4. Afzal, A. R., Rajab, A., Fenske, C. D., Oldridge, M., Elanko, N., Ternes-Pereira, E. et al. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat. Genet. 25, 419–422 (2000).

5. van Bokhoven, H., Celli, J., Kayserili, H., van Beusekom, E., Balci, S., Brussel, W. et al. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat. Genet. 25, 423–426 (2000).

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3. A novel variant in the ROR2 gene underlying brachydactyly type B: a case report;BMC Pediatrics;2022-09-05

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